Understanding how genetic mutations lead to developmental defects
Dynamics of Developmental Defect Formation
This study is looking at how certain genetic changes can lead to developmental disorders by using fruit flies to understand how their breathing system forms, which could help us learn more about conditions like RASopathies that affect growth and development.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Princeton University NIH-funded |
| Lab location | 1 site (Princeton, UNITED STATES) |
| Project ID | NIH-11064325 on NIH RePORTER |
What this research studies
This research investigates the connection between genetic mutations and developmental disorders by using a model organism, Drosophila, to study the formation of the larval tracheal system. By employing live imaging techniques, the researchers aim to identify critical points in development that are affected by these mutations, particularly focusing on the RASopathies, a group of developmental diseases. The study will analyze how changes in signaling pathways correlate with the emergence of defects, providing insights into the timing and nature of these developmental issues.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with known genetic mutations linked to developmental disorders, particularly those associated with RASopathies.
Not a fit: Patients without genetic mutations or those with developmental disorders not related to RASopathies may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of developmental disorders, potentially informing new therapeutic strategies.
How similar studies have performed: Other research has shown success in using model organisms to elucidate the mechanisms of developmental disorders, suggesting that this approach is promising.
Where this research is happening
Princeton, UNITED STATES
- Princeton University — Princeton, United States (Active)
Researchers
- Principal investigator: Simpkins, Alison — Princeton University
- Study coordinator: Simpkins, Alison
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.